Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.H261H
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SQSTM1

NM_003900.5:p.H261H

Associated Papers

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

SQSTM1 Mutations and Glaucoma.

Scheetz TE et al.

Plos One, 2016

27275741 (PubMed )
Supplement: pone.0156001.s001.xlsx › Sheet1

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."